Gene: Lama3 MGI:99909

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
laminin, alpha 3
Synonyms:
nicein, 150kDa,  [a]3B

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lama3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Lama3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Lama3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Carious teeth, Skin erosion, Atypical scarring of skin, Atrophic scars, Localized skin lesion, Er... ORPHA:79410
Epidermolysis Bullosa, Junctional, Herlitz Type
Enamel hypoplasia, Carious teeth, Atrophic scars, Failure to thrive, Congenital localized absence... OMIM:226700
Darier Disease
Plantar pits, Acrokeratosis, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Macule... ORPHA:218
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Gastrointestinal inflammation, Carious teeth, Localized skin lesion, Atrophic ... ORPHA:79405
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Aplasia cutis congenita, Palmoplantar keratoderma, Atrophic scars, Scarring al... ORPHA:79402
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Dysphagia, Enamel hypoplasia, Hypodontia OMIM:616029
Shaheen Syndrome
Enamel hypoplasia, Carious teeth, Palmoplantar hyperkeratosis OMIM:615328
Pruritic Urticarial Papules And Plaques Of Pregnancy
Urticarial plaque, Parakeratosis, Facial erythema, Erythematous papule, Palmoplantar erythema, Er... ORPHA:64745
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Familial Benign Chronic Pemphigus
Acantholysis, Skin erosion, Hyperkeratosis, Erythema, Skin vesicle ORPHA:2841
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental enamel morphology, Diffuse palmoplantar hyperkeratosis ORPHA:69087
Lichen Planus Pemphigoides
Hyperkeratosis, Skin vesicle, Abnormal oral mucosa morphology ORPHA:254478
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Localized skin lesion, Carious teeth, Oral mucosal blisters ORPHA:79406
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Pemphigus Foliaceus
Acantholysis, Skin vesicle, Skin erosion, Erythema ORPHA:79481
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Follicular hyperkeratosis, Thin upper lip vermilion, Palmoplantar keratoderma OMIM:613576
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Increased connective tissue, Scarring alopecia of scalp, Milia,... OMIM:226670
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm... ORPHA:1028
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Iga Pemphigus
Acantholysis, Skin erosion, Annular cutaneous lesion, Skin plaque, Ulcerative colitis, Oral mucos... ORPHA:555905
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin vesicle, Parakeratosis ORPHA:158681
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Pemphigoid Gestationis
Skin vesicle, Failure to thrive ORPHA:63275
Pemphigus Erythematosus
Skin vesicle, Acantholysis ORPHA:79480
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology, Dermal atrophy, Aplasia/Hypoplasia of the skin, Papule, Skin v... ORPHA:257
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Thick vermilion border, Palmoplantar hyperkeratosis ORPHA:363523
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of dental color, Dental enamel pits, Aplasia cutis congenita, Atyp... ORPHA:251393
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosi... ORPHA:3019
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Laryngoonychocutaneous Syndrome
Amelogenesis imperfecta, Skin ulcer OMIM:245660
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Smooth philtrum, Thin up... OMIM:129540
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Skin vesicle, Angular cheilitis OMIM:613102
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Enamel hypoplasia, Oligodontia, Hypodontia, Parakeratosis, Orthokeratosis, Dry skin OMIM:607626
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Thick lower lip vermilion, Hypoplasia of the primary teeth, U-Shaped upper lip... OMIM:234250
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Malar flattening ORPHA:139474
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology ORPHA:1653
Dermatitis Herpetiformis
Macule, Skin vesicle, Malabsorption, Erythema ORPHA:1656
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Xfe Progeroid Syndrome
Enamel hypoplasia, Absence of subcutaneous fat, Dermal atrophy, Cachexia, Dry skin OMIM:610965
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Melanocytic nevus, Anodontia OMIM:275450
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Carious teeth, Facial erythema, Palmoplantar keratoderma, Scarring alopecia of... OMIM:612843
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Enamel hypoplasia, Arthrogryposis multiplex congenita, Aplasia cutis congenita, Atrophic scars, E... OMIM:226730
Pyoderma Gangrenosum
Inflammation of the large intestine, Atrophic scars, Papule, Skin vesicle, Skin ulcer ORPHA:48104
Wells Syndrome
Skin vesicle, Cellulitis ORPHA:901
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Widely spaced teeth, Conical tooth, Palmar hyperkeratosis OMIM:613573
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule ORPHA:90000
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Cellulitis, Abnormality of the dentition, Papule, Cleft palate, Gingiv... ORPHA:2314
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, High palate, Mandibular prognathia, Malar flattening OMIM:600991
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture OMIM:203550
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Hypoplasia of teeth, Abnormality of dental morphology, Dry skin ORPHA:248
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Sjögren-Larsson Syndrome
Hyperkeratosis, Dry skin, Abnormal dental enamel morphology, Erythema ORPHA:816
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Carious teeth, Microretrognathia, Pierre-Robin sequence, Tooth agenesis,... OMIM:618363
Dyskeratosis Congenita
Oral leukoplakia, Carious teeth, Esophageal stenosis, Palmoplantar keratoderma, Taurodontia, Peri... ORPHA:1775
Mulibrey Nanism
Nevus flammeus, Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Hypodontia, Micr... OMIM:253250
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth, Obesity OMIM:612463
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Enamel hypoplasia, Narrow mouth, Spontaneous esophageal perforation, Atrophic scars, Dysphagia, F... OMIM:226600
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Enamel hypoplasia ORPHA:91133
Hennekam-Beemer Syndrome
Camptodactyly of finger, Thick lower lip vermilion, Micrognathia, Subcutaneous nodule, High palat... ORPHA:2135
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
48,Xyyy Syndrome
Enamel hypoplasia, Long philtrum, Irregularly spaced teeth, High palate, Thick lower lip vermilion ORPHA:99329
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Inflammation of the large intestine, Hyperkeratosis, Esophageal varix, Failure... OMIM:614576
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Oligodontia, Short mandibular rami, Prominent frontal sinuses, Antegonial notc... OMIM:170390
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding OMIM:600907
Sjogren-Larsson Syndrome
Enamel hypoplasia OMIM:270200
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Agan... ORPHA:2919
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Lichtenstein Syndrome
Enamel hypoplasia, Carious teeth, Downturned corners of mouth OMIM:246550
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Porphyria Variegata
Skin erosion, Localized skin lesion, Scarring, Hepatocellular carcinoma, Ileus, Milia, Skin vesicle ORPHA:79473
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Micrognathia OMIM:251190
Cockayne Syndrome Type 2
Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Scarring, ... ORPHA:90322
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Hematochezia, Intestinal malrotation, Omphalocele, Intestinal atresia OMIM:243150
Pachyonychia Congenita
Oral leukoplakia, Palmoplantar keratoderma, Eruptive vellus hair cyst, Natal tooth, Angular cheil... ORPHA:2309
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Amelogenesis imperfecta, Delayed eruption of teeth, Hypodontia OMIM:615905
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Hyperkeratosis, Hypodontia, Hernia, Failure to thrive... OMIM:617052
Corneodermatoosseous Syndrome
Hypomature dental enamel, Abnormality of the dentition, Palmoplantar hyperkeratosis OMIM:122440
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Delayed eruption of teeth, Overweight,... OMIM:619229
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Narrow palate, Recurrent gastroenteritis, Scarring, Mandibular prognathia, ... ORPHA:99843
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Aplasia cutis congenita, Palmoplantar keratoderma, Atrophic scars, Scarring, E... ORPHA:79396
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Short philtrum, Drooling, Flexion contracture, Gastroesophageal reflux, Wide m... OMIM:619293
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Camptodactyly of finger, Carious teeth, Hypodontia, Oral mucosal blisters, Plantar hyperkeratosis OMIM:226650
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Enamel hypominera... ORPHA:3352
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
Sweet Syndrome
Inflammation of the large intestine, Erythematous papule, Panniculitis, Pyoderma gangrenosum, Ery... ORPHA:3243
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Microdontia, Widely spaced teeth, Hy... OMIM:601216
Oculocerebrodental Syndrome
Enamel hypoplasia, Oligodontia, Abnormality of the dentition, Microdontia, Retrognathia ORPHA:557003
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening, Failure to thrive OMIM:614727
Acrootoocular Syndrome
Delayed eruption of teeth, Dental malocclusion, Grayish enamel, Palmar hyperkeratosis, Anodontia,... ORPHA:2980
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Oligodontia, Scarring alopecia of scalp, Persistence of primary teeth, Microdo... OMIM:618727
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Shagreen patch, Delayed eruption of teeth, Palmoplantar keratoderma, Hypodontia ORPHA:1816
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Hepatocellular adenoma, Cutis laxa, Umbilical hernia, Inguinal ... ORPHA:3134
Ameloonychohypohidrotic Syndrome
Abnormal dental enamel morphology, Marked delay in eruption of permanent teeth, Dry skin OMIM:104570
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth OMIM:183300
Arthrogryposis And Ectodermal Dysplasia
Oligodontia, Abnormal dental enamel morphology, Arthrogryposis multiplex congenita, Hyperkeratosi... OMIM:601701
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Camptodactyly of finger, Carious teeth, Abnormal dental enam... ORPHA:2908
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Costello Syndrome
Abnormal dental enamel morphology, Macroglossia, Narrow palate, Hyperkeratosis, Redundant skin, G... ORPHA:3071
Chronic Mucocutaneous Candidiasis
Abnormal dental enamel morphology, Abnormality of the mouth, Hyperkeratosis, Cheilitis, Erythema,... ORPHA:1334
Trichodental Dysplasia
Conical tooth, Odontodysplasia, Hypodontia OMIM:601453
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Oligodontia, Dental crowding, Pierre-Robin sequence, Thick vermilion border, H... OMIM:619184
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth, Obesity OMIM:612462
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:10
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Mandibular prognathia, Natal... OMIM:259775
Cockayne Syndrome Type 1
Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Scarring, ... ORPHA:90321
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth, Failure to thrive OMIM:277440
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Mandibular prognathia, Hypodontia, Bifid uvula, Dens in dente, Macrodontia OMIM:263540
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia... ORPHA:1133
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Short philtrum, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Epidermolysis Bullosa, Lethal Acantholytic
Aplasia cutis congenita, Acantholysis, Skin erosion, Natal tooth, Neonatal death OMIM:609638
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth, Obesity OMIM:103580
Seckel Syndrome 1
Enamel hypoplasia, Dental crowding, Selective tooth agenesis, Cleft palate, High palate, Dental m... OMIM:210600
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Taurodontia, Everted lower lip vermilion, Abnormality of the d... ORPHA:1515
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Microcephalic Primordial Dwarfism, Montreal Type
Open bite, Shagreen patch, Carious teeth, Abnormal palate morphology, Lipoatrophy, Congenital pyl... ORPHA:2617
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Aplasia cutis congenita, Congenital pyloric atresia, Oral mucosal blisters, In... ORPHA:79403
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral-pharyngeal dysphagia, Oral ... ORPHA:199306
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth, Failure to thrive OMIM:264700
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Mandibular prognathia, High palate, Malar flattening, Obesity ORPHA:2180
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Taurodontia OMIM:211900
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Agenesis of permanent teeth, Tongue nodules, Microretrognathia,... OMIM:311200
Chronic Graft Versus Host Disease
Intermittent generalized erythematous papular rash, Dysphagia, Flexion contracture, Abnormal esop... ORPHA:99921
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hypoplasia of teeth, Narrow mouth, Dental crowding, Flexion contracture, Dermal atrophy, Prematur... OMIM:608612
Short Syndrome
Abnormal dental enamel morphology, Abnormality of the zygomatic bone, Lipodystrophy, Abnormality ... ORPHA:3163
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Long philtrum, Oligodontia, Short philtrum, Hypoplasia of teeth, Narrow mouth, Downturned corners... ORPHA:391408
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Stomatitis, Weight loss, Steatorrhea, Failure to thrive, Recurrent aphthous st... OMIM:212750
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Oligodontia, Scarring alopecia of scalp, Hypodontia ORPHA:59303
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... ORPHA:2107
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Abnormal dental enamel morphology, Abnormality of dental morphology, Bilateral cle... ORPHA:3253
Immunodeficiency 9
Amelogenesis imperfecta, Recurrent aphthous stomatitis, Stomatitis, Failure to thrive OMIM:612782
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Mandibuloacral Dysplasia
Abnormal tongue morphology, Increased intraabdominal fat, Hypoplasia of teeth, Dental crowding, T... ORPHA:2457
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Abnormality of the mandible, Cleft palate OMIM:217150
Darier-White Disease
Plantar pits, Acrokeratosis, Acantholysis, Palmar pits, Subungual hyperkeratotic fragments, Enlar... OMIM:124200
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Kilquist Syndrome
Hypoplasia of teeth, Mandibular prognathia, Gastroesophageal reflux, Intestinal malrotation, Wide... OMIM:619080
Brittle Cornea Syndrome 1
Palmoplantar cutis laxa, Molluscoid pseudotumors, Dentinogenesis imperfecta, Atypical scarring of... OMIM:229200
Pachyonychia Congenita 2
Subungual hyperkeratosis, Natal tooth, Epidermoid cyst, Palmoplantar hyperkeratosis OMIM:167210
Corneodermatoosseous Syndrome
Carious teeth, Abnormal dental enamel morphology, Palmoplantar keratoderma, Erythema, Gingivitis ORPHA:3194
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Hypoplasia of teeth,... ORPHA:2909
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Cutis laxa, Umbilical hernia, Inguinal hernia OMIM:312830
Qazi-Markouizos Syndrome
Drooling, Hypoplasia of teeth, Open mouth, Broad philtrum, High, narrow palate ORPHA:3010
Odontochondrodysplasia
Dentinogenesis imperfecta, Retrognathia, Delayed eruption of teeth ORPHA:166272
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Aplasia/... ORPHA:1782
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Wide mouth, Abnormality of the dentition, Failure to thrive, Bifid uvula OMIM:615802
Oculodentodigital Dysplasia
Enamel hypoplasia, Carious teeth, Taurodontia, Joint contracture of the 5th finger, Selective too... OMIM:164200
Ohdo Syndrome
Long philtrum, Thin vermilion border, Hypoplasia of teeth, Narrow mouth, Smooth philtrum, Microgn... OMIM:249620
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hyperkeratosis, Short philtrum, Natal tooth, Orthokeratosis OMIM:617337
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Abnormal stomach morphology ORPHA:281090
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Malabsorption, Chronic atrophic gastritis OMIM:240300
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Alveo... OMIM:273050
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth, Failure to thrive ORPHA:289157
Cleidocranial Dysplasia
Enamel hypoplasia, Delayed eruption of primary teeth, Narrow palate, Absent frontal sinuses, Hypo... OMIM:119600
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Hypoplasia of teeth OMIM:613312
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Abnormality of the dentition OMIM:610967
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
Chikungunya
Enthesitis, Erythema, Macule, Petechiae, Skin vesicle, Gingival bleeding ORPHA:324625
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Truncal obesity, Retrognathia, Cafe-au-lait spot, Microdontia OMIM:210720
Craniolenticulosutural Dysplasia
Long philtrum, Thin vermilion border, Carious teeth, Delayed eruption of teeth, Hypoplasia of tee... ORPHA:50814
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypoplasia of teeth, Dental crowding, Increased adipose tissue around the neck, Flexion contractu... OMIM:248370
48,Xxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96263
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Focal Dermal Hypoplasia
Open bite, Abnormal dental enamel morphology, Thin skin, Omphalocele, Erythema, Congenital diaphr... ORPHA:2092
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology, Gastrointestinal hemorrhage, Hyperkeratosis, Melanocytic nevus... ORPHA:79430
Trichothiodystrophy
Enamel hypoplasia, Carious teeth, High, narrow palate, Absence of subcutaneous fat, Umbilical her... ORPHA:33364
Usher Syndrome Type 2
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:231178
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Rectovaginal fistula, High palate, Mi... ORPHA:861
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Orthokeratotic hyperkeratosis, Thin vermilion border, Long philtrum, Localized hypoplasia of dent... ORPHA:73223
Pde4D Haploinsufficiency Syndrome
Long philtrum, Abnormal dental enamel morphology, Short philtrum, Mandibular prognathia, Obesity,... ORPHA:439822
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Abnormal palate morphology ORPHA:3236
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Carious teeth OMIM:604922
Koolen-De Vries Syndrome
Abnormal dental enamel morphology, Narrow palate, Everted lower lip vermilion, Abnormality of the... ORPHA:96169
Codas Syndrome
Enamel hypoplasia, Delayed eruption of teeth, Gastroesophageal reflux, Omphalocele, Rectovaginal ... OMIM:600373
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Facial erythema, Abn... ORPHA:221016
Familial Adenomatous Polyposis
Abnormal cementum morphology, Colorectal polyposis, Adenomatous colonic polyposis, Eruption failu... ORPHA:733
Eec Syndrome
Carious teeth, Abnormal dental enamel morphology, Taurodontia, Hyperkeratosis, Nevus, Tooth agene... ORPHA:1896
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Palmoplantar keratoderma, Submucous... ORPHA:1071
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal dental enamel morphology, Thin skin, Inguinal hernia, Microdontia, Hypoplasia of the zyg... ORPHA:1812
Cleidocranial Dysplasia
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Mandibula... ORPHA:1452
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Facial erythema, Abn... ORPHA:221008
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Acrocallosal Syndrome
Long philtrum, Thin vermilion border, Short philtrum, Hypoplasia of teeth, Open mouth, Microretro... OMIM:200990
Temtamy Syndrome
Long philtrum, Micrognathia, Hypoplasia of teeth, Dental crowding OMIM:218340
Dysostosis, Stanescu Type
Macroglossia, Carious teeth, Abnormal dental enamel morphology, Abnormal palate morphology, Abnor... ORPHA:1798
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hyperkeratosis, Abnormal dental enamel morphology ORPHA:1005
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Hypoplasia of teeth, Agenesis of permanent teeth, Mandibular prognathi... OMIM:268400
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Osteoma cutis, Delayed eruption of teeth, Obesity ORPHA:79444
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental morphology ORPHA:1458
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal dental enamel morphology, Mandibular prognathia, Hypodontia, Cleft palate, Vaginal herni... ORPHA:2916
Nail-Patella Syndrome
Enamel hypoplasia, Morphological abnormality of the gastrointestinal tract, Contracture of the di... ORPHA:2614
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Carious teeth, Small intestine carcinoid, Hepatoblastoma, Abnormality of... OMIM:175100
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Gastrointestinal inflammation, Aplasia cutis congenita, Skin erosion, Erosion ... ORPHA:79404
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Widely spaced teeth, Microdontia, Hypoplasia of teeth, Cleft palate ORPHA:2728
Odontochondrodysplasia 1
Long philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth OMIM:184260
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Colorectal polyposis, Adenomatous colonic polyposis... ORPHA:157798
Cockayne Syndrome
Enamel hypoplasia, Carious teeth, Delayed eruption of primary teeth, Agenesis of permanent teeth,... ORPHA:191
Sanjad-Sakati Syndrome
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Abnormality of the denti... ORPHA:2323
Osteogenesis Imperfecta, Type X
Pyloric stenosis, Inguinal hernia, Dentinogenesis imperfecta, Micrognathia, Malar flattening OMIM:613848
Stuve-Wiedemann Syndrome
Pursed lips, Abnormal dental enamel morphology, Thin skin, Dysphagia, Flexion contracture of toe,... OMIM:601559
Incontinentia Pigmenti
Camptodactyly of finger, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormalit... ORPHA:464
Cranioectodermal Dysplasia 3
Hypoplasia of teeth, Cutis laxa, Everted lower lip vermilion, Micrognathia, Widely spaced teeth, ... OMIM:614099
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Abnormality of dental morphology, Abnormal palate morphology, ... ORPHA:85199
Cole-Carpenter Syndrome 2
Microretrognathia, High palate, Dentinogenesis imperfecta OMIM:616294
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Osteoma cutis, Delayed eruption of teeth, Obesity ORPHA:79443
Harrod Syndrome
Malrotation of small bowel, Narrow mouth, Dental malocclusion, Aganglionic megacolon, Failure to ... OMIM:601095
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Everted lower lip vermilion, Anodontia, Hypodontia, Microdontia, High palate, ... OMIM:218330
Oculodentodigital Dysplasia
Camptodactyly of finger, Carious teeth, Abnormal dental enamel morphology, Palmoplantar keratoder... ORPHA:2710
Mucopolysaccharidosis Type 4
Carious teeth, Abnormal dental enamel morphology, Wide mouth, Grayish enamel, Abnormality of the ... ORPHA:582
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Ménétrier Disease
Multiple gastric polyps, Gastrointestinal hemorrhage, Helicobacter pylori infection, Gastroesopha... ORPHA:2494
Focal Dermal Hypoplasia
Enamel hypoplasia, Hiatus hernia, Oligodontia, Delayed eruption of teeth, Intestinal malrotation,... OMIM:305600
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... ORPHA:1031
Orofaciodigital Syndrome Type 1
Open bite, Abnormal dental enamel morphology, Accessory oral frenulum, Tongue nodules, Odontogeni... ORPHA:2750
Scleroderma
Abnormal stomach morphology, Intestinal bleeding, Narrow mouth, Spotty hypopigmentation, Abnormal... ORPHA:801
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Short philtrum, Open mouth, Mandibular prognathia, Gastroesophageal reflux, Th... OMIM:300896
Systemic Sclerosis
Abnormal stomach morphology, Intestinal bleeding, Narrow mouth, Spotty hypopigmentation, Abnormal... ORPHA:90291
Cenani-Lenz Syndrome
Short philtrum, Abnormal dental enamel morphology, Hypodontia, High, narrow palate, Malar flattening ORPHA:3258
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Failure of eruption of permanent teeth, Preauricular skin tag, Inguinal hernia... OMIM:272460
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Periodontitis, Premature loss of teeth, Dentinogenesis imperfecta, Retrognathia, Delayed eruption... OMIM:619269
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Dysphagia, Abnormal salivary... ORPHA:2363
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... ORPHA:2751
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Talon cusp, Narrow palate, Narrow mouth, Dental crowding, Flexion contracture,... OMIM:180849
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia OMIM:259420
Gardner Syndrome
Multiple gastric polyps, Multiple unerupted teeth, Ampulla of Vater carcinoma, Esophageal carcino... ORPHA:79665
Cockayne Syndrome B
Carious teeth, Delayed eruption of primary teeth, Hypoplasia of teeth, Atypical scarring of skin,... OMIM:133540
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Amelogenesis Imperfecta, Type Ig
Delayed eruption of permanent teeth, Amelogenesis imperfecta, Dagger-shaped pulp calcifications, ... OMIM:204690
Craniolenticulosutural Dysplasia
Long philtrum, Carious teeth, Delayed eruption of teeth, Hypoplasia of teeth, Gastroesophageal re... OMIM:607812
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia ORPHA:2050
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Abnormality of the dentition OMIM:610968
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Hypoplasia of teeth OMIM:234050
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of the dentition, Taurodo... ORPHA:3220
Branchioskeletogenital Syndrome
Thin vermilion border, Carious teeth, Short philtrum, Downturned corners of mouth, Mandibular pro... ORPHA:1299
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Palmoplantar keratoderma, Abnormality of dental morphology, Tooth agen... ORPHA:3353
Seckel Syndrome
Abnormal dental enamel morphology, Micrognathia, Cachexia, Tooth agenesis ORPHA:808
Mucopolysaccharidosis, Type Iva
Carious teeth, Mandibular prognathia, Wide mouth, Grayish enamel, Inguinal hernia, Widely spaced ... OMIM:253000
Oculocerebrorenal Syndrome Of Lowe
Open bite, Carious teeth, Abnormal dental enamel morphology, Narrow palate, Open mouth, Dental cr... ORPHA:534
Mucopolysaccharidosis, Type Ivb
Carious teeth, Mandibular prognathia, Wide mouth, Grayish enamel, Inguinal hernia, Widely spaced ... OMIM:253010
3M Syndrome
Long philtrum, Abnormal dental enamel morphology, Delayed eruption of teeth, Everted lower lip ve... ORPHA:2616
Osteogenesis Imperfecta, Type I
Thin skin, Dentinogenesis imperfecta OMIM:166200
Usher Syndrome
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:886
Cockayne Syndrome Type 3
Enamel hypoplasia, Carious teeth, Flexion contracture, Gastroesophageal reflux ORPHA:90324
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Micrognathia, Hypoplasia of the tooth germ, Contracture of the proximal interphalang... ORPHA:293967
Tuberous Sclerosis 1
Shagreen patch, Dental enamel pits, Gingival fibromatosis, Subcutaneous nodule, Hypomelanotic mac... OMIM:191100
Barber-Say Syndrome
Delayed eruption of teeth, Thin vermilion border, Redundant skin, Mandibular prognathia, Wide mou... OMIM:209885
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hypocalcification of dental enamel ORPHA:169090
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity ORPHA:251004
Microphthalmia With Linear Skin Defects Syndrome
Mandibular aplasia, Abnormal dental enamel morphology, Abnormal rectum morphology, Sacral dimple,... ORPHA:2556
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Redundant skin, Mandibular prognathia, Femoral hernia, Wide mo... ORPHA:2658
Cockayne Syndrome A
Carious teeth, Delayed eruption of primary teeth, Hypoplasia of teeth, Atypical scarring of skin,... OMIM:216400
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita, Skin erosion, Atrophic scars, Scarring alopecia of scalp, Flexion contra... ORPHA:158684
Ramon Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Hyperkeratosis, Decreased body w... OMIM:266270
Hypophosphatemic Rickets
Periapical tooth abscess, Craniofacial osteosclerosis, Tooth abscess, Craniofacial asymmetry, Odo... ORPHA:437
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Gastroesophageal reflux, Abnormality of the gastric mucosa, Colonic ... ORPHA:263665
Stickler Syndrome
Slender build, Open bite, Abnormal dental enamel morphology, Long philtrum, Macroglossia, Gastroe... ORPHA:828
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long philtrum, Carious teeth, Dermal translucency, Thin skin, Atrophic scars, Dentinogenesis impe... ORPHA:536467
Bosma Arhinia Microphthalmia Syndrome
Hypoplasia of teeth, Inguinal hernia, Cleft lip, Cleft palate, High palate, Dental malocclusion, ... OMIM:603457
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Camptodactyly of finger, Subcutaneous nodule, Joint contracture of the hand, F... OMIM:309000
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta OMIM:610319
22Q11.2 Deletion Syndrome
Carious teeth, Abnormal dental enamel morphology, Narrow mouth, Intestinal malrotation, Micrognat... ORPHA:567
Osteogenesis Imperfecta
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Delayed eruption o... ORPHA:666
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization OMIM:307800
Smith-Lemli-Opitz Syndrome
Long philtrum, Abnormal dental enamel morphology, Abnormality of dental morphology, Pyloric steno... ORPHA:818
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Carious teeth, Delayed eruption of primary teeth, Hypodontia, Xerostomia, Abse... OMIM:149730
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Hyperkeratosis, Aganglionic megacolon... ORPHA:2273
Reynolds Syndrome
Dysphagia, Gastroesophageal reflux, Xerostomia, Abnormality of the gastric mucosa, Skin ulcer ORPHA:779
Bronchogenic Cyst
Dysphagia, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Williams Syndrome
Open bite, Carious teeth, Abnormal dental enamel morphology, Failure to thrive in infancy, Coloni... ORPHA:904
Proteus Syndrome
Epidermal nevus, Generalized hyperkeratosis, Carious teeth, Abnormal dental enamel morphology, Su... ORPHA:744
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Perineal fistula, Gastroesophageal reflux, Intestinal malrotation, Es... ORPHA:2538
X-Linked Hypophosphatemia
Cellulitis, Abnormal dentin morphology, Tooth abscess, Odontodysplasia, Enthesitis ORPHA:89936
Johanson-Blizzard Syndrome
Agenesis of permanent teeth, Hypoplasia of the primary teeth, Rectovaginal fistula, Anal atresia,... OMIM:243800
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta OMIM:248190
Tetrasomy 9P
Median cleft lip and palate, Abnormal dental enamel morphology, Amelogenesis imperfecta, Short ph... ORPHA:3310
Proximal Renal Tubular Acidosis
Enamel hypomineralization, Malabsorption, Failure to thrive ORPHA:47159
Microgastria-Limb Reduction Defects Association
Gastroesophageal reflux, Intestinal malrotation, Aganglionic megacolon, Microgastria, Failure to ... OMIM:156810
Singleton-Merten Syndrome 1
Carious teeth, Hypoplasia of the tooth germ, Smooth philtrum, Decreased body weight, Eruption fai... OMIM:182250
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Morphological abnormality of the gastrointestin... ORPHA:141127
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... ORPHA:512

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lama3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lama3.

No publications found that use IMPC mice or data for Lama3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Lama3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter